BGI XOME™ Targeted Panel

The BGI XOME™ Targeted Panel is a state-of-the-art solution for the molecular diagnosis of rare inherited diseases through high-precision sequencing of targeted genomic regions. This test detects pathogenic variants in over 5,000 genes associated with more than 5,000 monogenic disorders in patients with suspected inherited syndromes.

The test is based on next-generation sequencing (NGS) technology using a target region capture method. This ensures high coverage depth in key genes and increases sensitivity to clinically significant variants.

Indications for Testing

• Patients with suspected rare inherited diseases
• Individuals with a family history of monogenic disorders
• Complex clinical cases with a nonspecific phenotype
• Ambiguous or negative results from previous genetic tests

 Advantages

• Targeted approach: focus on clinically significant regions, which increases the chances of detecting relevant variants
• High accuracy: deep coverage of target regions ensures reliable detection
• Flexibility: a wide range of panels covering 10 major body systems
• Extensive experience: BGI has performed millions of tests for conditions such as thalassemia, cystic fibrosis, neurofibromatosis, myopathies, cardiomyopathies, Marfan syndrome, inherited metabolic disorders, and more
• Customization options: panel selection based on phenotype or clinician’s request.

BGI XOME™ Targeted Panel — targeted diagnostics for monogenic diseases.